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Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome

✍ Scribed by L. Martin; A. Toutain; C. Guillen; M. Haftek; M.C. Machet; C. Toledano; B. Arbeille; G. Lorette; A. Rötig; L. Vaillant

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 494 KB
Volume: 143
Category: Article
ISSN: 0007-0963
DOI: 10.1046/j.1365-2133.2000.03797.x

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✦ Synopsis

We report a French pedigree with members having an inherited combination of non-epidermolytic palmoplantar keratoderma (NEPPK) and sensorineural deafness. The penetrance of both features was incomplete. Additional ectodermal defects were absent. The expression of numerous epidermal proteins (keratins, fillagrin, cornified envelope proteins, intercellular junction proteins including connexin 26, and loricrin) defined with immunolabelling was normal in the proband. The combination was shown to be associated with the A7445G point mutation in the mitochondrial genome (mtDNA). This mutation is responsible for a subtype of NEPPK which is so far the only mtDNA mutation-associated keratoderma.

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